Department of Biotechnology, Govt. V.Y.T.PG. Autonomous College, Durg, Chhattisgarh Pin - 491001, India.
Department of Biotechnology, Govt. V.Y.T.PG. Autonomous College, Durg, Chhattisgarh Pin - 491001, India.
Gene. 2019 Jul 30;707:143-150. doi: 10.1016/j.gene.2019.04.080. Epub 2019 May 7.
Present study was undertaken to study the association between sickle cell anemia (SCA) and glucose-6-phosphate dehydrogenase (G6PD) deficiency from Sahu and Kurmi population of Durg and Rajnandgaon district of Chhattisgarh, India.
A random sampling of 1749 individuals was done. SCA and G6PD deficiency was detected by slide test followed by electrophoresis and Enzymatic reaction indicated by change in colour respectively. Further the samples were subjected to analyze glutathione-S-transferase (GST) i.e. GSTM1 and GSTT1 gene polymorphism, variance of G6PD among G6PD deficient samples by PCR-RFLP. Oxidative stress and DNA damage by comet assay was also analyzed.
Present finding indicates positive correlation between SCA and G6PD deficiency in Durg and Rajnandgaon district [Durg: (r = 0.92; HbAS-G6PDd and r = 0.56; HbSS-G6PDd) Rajnandgaon: (r = 0.63; HbAS-G6PDd and r = 0.86; HbSS-G6PDd)]. Significant changes (P < 0.05) in antioxidant enzymatic parameters were observed in HbSS and G6PD with sickle positive individual. Assessment of DNA damage by Comet assay considering Head DNA percent, Tail DNA percent, Tail length and Tail moment also showed significant changes (P < 0.05) within all concerned parameters in HbSS and G6PD with sickle positive individual. Analysis of GST gene polymorphism showed that frequency of individuals carrying the GSTM1 null genotype was higher in HbAS (60%) and the frequency of individual carrying the GSTT1 null genotype was found higher in HbSS (66.6%). G6PD variants analysis also confirmed the presence of highest percentage of mutation among G6PD deficient population as compared to control and a positive correlation was observed between G6PD deficiency and mutant variants of G6PD gene [Rajnandgaon: (r = 0.67; G6PDd-Mahidol mutated and r = 0.90; G6PDd-Union mutated) Durg: (r = 0.91; G6PDd-Mahidol mutated and r = 0.01; G6PDd-Union mutated)] .
Thus present finding indicates positive correlation between SCA and G6PD deficiency in Chhattisgarh, India.
本研究旨在探讨印度恰蒂斯加尔邦杜尔格和拉杰恩德拉冈地区的萨胡和库里米人群中镰状细胞贫血症（SCA）和葡萄糖-6-磷酸脱氢酶（G6PD）缺乏之间的关联。
采用随机抽样法对 1749 人进行抽样。通过幻灯片试验检测 SCA 和 G6PD 缺乏症，随后通过电泳和酶反应分别检测颜色变化。进一步对样品进行谷胱甘肽-S-转移酶（GST）即 GSTM1 和 GSTT1 基因多态性分析，PCR-RFLP 分析 G6PD 缺乏样本中 G6PD 的变异。通过彗星试验分析氧化应激和 DNA 损伤。
本研究结果表明，在杜尔格和拉杰恩德拉冈地区，SCA 与 G6PD 缺乏呈正相关[杜尔格：（r=0.92；HbAS-G6PDd 和 r=0.56；HbSS-G6PDd）；拉杰恩德拉冈：（r=0.63；HbAS-G6PDd 和 r=0.86；HbSS-G6PDd）]。在镰状阳性个体中，观察到抗氧化酶参数的显著变化（P<0.05）。通过彗星试验评估 DNA 损伤，考虑头部 DNA 百分比、尾部 DNA 百分比、尾部长度和尾部矩，在所有相关参数中，HbSS 和 G6PD 阳性个体也显示出显著变化（P<0.05）。GST 基因多态性分析表明，HbAS 中携带 GSTM1 缺失基因型的个体频率较高（60%），HbSS 中携带 GSTT1 缺失基因型的个体频率较高（66.6%）。G6PD 变异分析还证实，与对照相比，G6PD 缺乏人群中突变的百分比最高，并且观察到 G6PD 缺乏与 G6PD 基因突变之间存在正相关[拉杰恩德拉冈：（r=0.67；G6PDd-Mahidol 突变和 r=0.90；G6PDd-Union 突变）；杜尔格：（r=0.91；G6PDd-Mahidol 突变和 r=0.01；G6PDd-Union 突变）]。
因此，本研究结果表明，在印度恰蒂斯加尔邦，SCA 与 G6PD 缺乏之间存在正相关。
